Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Loïc Drévillon"'
Autor:
Aurélie Mouka, Brahim Arkoun, Pauline Moison, Loïc Drévillon, Rafika Jarray, Sophie Brisset, Anne Mayeur, Jérôme Bouligand, Anne Boland-Auge, Jean-François Deleuze, Frank Yates, Thomas Lemonnier, Patrick Callier, Yannis Duffourd, Patrick Nitschke, Emmanuelle Ollivier, Arnaud Bourdin, John De Vos, Gabriel Livera, Gérard Tachdjian, Leïla Maouche-Chrétien, Lucie Tosca
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Abstract Despite increasing insight into the genetics of infertility, the developmental disease processes remain unclear due to the lack of adequate experimental models. The advent of induced pluripotent stem cell (iPSC) technology has provided a uni
Externí odkaz:
https://doaj.org/article/448defd6914244f9bd5854134c078283
Autor:
Lucie Tosca, Loïc Drévillon, Aurélie Mouka, Laure Lecerf, Audrey Briand, Valérie Ortonne, Virginie Benoit, Sophie Brisset, Lionel Van Maldergem, Quitterie Laudouar, Solveig Heide, Michel Goossens, Irina Giurgea, Gérard Tachdjian, Corinne Métay
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background Terminal deletions of the long arm of chromosome 7 are well known and frequently associated with syndromic holoprosencephaly due to the involvement of the SHH (aliases HHG1, SMMCI, TPT, TPTPS, and MCOPCB5) gene region. However, in
Externí odkaz:
https://doaj.org/article/ce89b36c62a24af3a9382758b4baf3e7
Autor:
Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian
Publikováno v:
Case Reports in Genetics, Vol 2017 (2017)
Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with cra
Externí odkaz:
https://doaj.org/article/c2c686b160e74fecb81c30866e115d0a
Autor:
Loïc Drévillon, Gaëlle Tanguy, Alexandre Hinzpeter, Nicole Arous, Alix de Becdelièvre, Abdel Aissat, Agathe Tarze, Michel Goossens, Pascale Fanen
Publikováno v:
PLoS ONE, Vol 6, Iss 3, p e18334 (2011)
The CFTR (cystic fibrosis transmembrane conductance regulator) protein is a large polytopic protein whose biogenesis is inefficient. To better understand the regulation of CFTR processing and trafficking, we conducted a genetic screen that identified
Externí odkaz:
https://doaj.org/article/5061d0c3eb354a89b407b3b4a012778f
Autor:
Marie Boisson, Anne‐Gael Cordier, Jelena Martinovic, Aline Receveur, Aurélie Mouka, Romain Diot, Catherine Egoroff, Geoffroy Esnault, Loïc Drévillon, Alexandra Benachi, Gérard Tachdjian, Lucie Tosca
Publikováno v:
Prenatal Diagnosis. 42:1627-1635
The congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and lung hypoplasia, is a common and severe birth defect that affects around 1 in 4000 live births. However, the etiology of most cases of CDH remains unclear.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::050bb4f1c67f6a49971450bef2e22977
https://doi.org/10.1002/pd.6268
https://doi.org/10.1002/pd.6268
Autor:
Laure Lecerf, Irina Giurgea, Quitterie Laudouar, Audrey Briand, Sophie Brisset, Solveig Heide, Aurélie Mouka, G Tachdjian, Lionel Van Maldergem, Michel Goossens, Corinne Metay, Loïc Drévillon, Valérie Ortonne, Lucie Tosca, Virginie Benoit
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. In press, pp.e1645. ⟨10.1002/mgg3.1645⟩
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. In press, pp.e1645. ⟨10.1002/mgg3.1645⟩
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Background Terminal deletions of the long arm of chromosome 7 are well known and frequently associated with syndromic holoprosencephaly due to the involvement of the SHH (aliases HHG1, SMMCI, TPT, TPTPS, and MCOPCB5) gene region. However, interstitia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b1bf3ce904f743be703850173c0d934
https://doi.org/10.1002/mgg3.1645
https://doi.org/10.1002/mgg3.1645
Autor:
Serge Amselem, Irina Giurgea, Thierry Gaillon, Fabienne Giuliano, Michel Goossens, Jamal Ghoumid, Damien Haye, H. Jacquemin-Sablon, Loïc Drévillon, Thierry Bienvenu, V. Nau, E. El Khouri, Audrey Briand-Suleau, P. De La Grange
Publikováno v:
Molecular Psychiatry
Molecular Psychiatry, Nature Publishing Group, 2021, ⟨10.1038/s41380-021-01072-7⟩
Molecular Psychiatry, Nature Publishing Group, 2021, ⟨10.1038/s41380-021-01072-7⟩
Among the genetic factors playing a key role in the etiology of intellectual disabilities (IDs) and autism spectrum disorders (ASDs), several encode RNA-binding proteins (RBPs). In this study, we deciphered the molecular and cellular bases of ID-ASD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e106d2ddd74115f9a134848406090109
https://pubmed.ncbi.nlm.nih.gov/33867523
https://pubmed.ncbi.nlm.nih.gov/33867523
Autor:
Jelena Martinovic, Jérôme Bouligand, Jeanne Amiel, Frédéric Parisot, Virginie Benoit, François Petit, Aline Receveur, Alexis Proust, Gérard Tachdjian, Lucie Tosca, Elie Azria, Sophie Brisset, Minh-Tuan Huynh, Loïc Drévillon
Publikováno v:
European Journal of Medical Genetics. 61:322-328
Proximal 19p13.12 microdeletion has been rarely reported. Only five postnatal cases with intellectual disability, facial dysmorphism, branchial arch defects and overlapping deletions involving proximal 19p13.12 have been documented. Two critical inte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef692aa5cd7d3620b6b38d3bbfe896c5
https://doi.org/10.1016/j.ejmg.2018.01.009
https://doi.org/10.1016/j.ejmg.2018.01.009
Autor:
Sophie Brisset, Lucie Tosca, Gérard Tachdjian, Julien Saada, Virginie Benoit, Loïc Drévillon, Marie-Emmanuelle Naud, Jelena Martinovic, Corinne Metay
Publikováno v:
Case Reports in Genetics
Case Reports in Genetics, Vol 2017 (2017)
Case Reports in Genetics, Vol 2017 (2017)
Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with cra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd04c415e082e294b877d88a6ad965d4
http://europepmc.org/articles/PMC5390532
http://europepmc.org/articles/PMC5390532
Autor:
Constantin Yanicostas, Michel Goossens, Jeanne Amiel, David Mowat, Irina Giurgea, Linda Goodwin, Marlène Rio, Nadia Soussi-Yanicostas, Jamal Ghoumid, Seyedeh Maryam Alavi-Naini, Patrick Raymond, Nadege Bondurand, Stanislas Lyonnet, Loïc Drévillon, Audrey Briand-Suleau, Mayssa Nasser
Publikováno v:
Human Molecular Genetics. 22:2652-2661
Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple con- genital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, con- otruncal heart defects, urogenital mal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69ef8d82e64a992341ca37b829e41311
https://doi.org/10.1093/hmg/ddt114
https://doi.org/10.1093/hmg/ddt114